Canonical Allele Identifier: CA694164947

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs1336948492
• gnomAD v3: 13-100530284-C-CATT
• gnomAD v4: 13-100530284-C-CATT
• MyVariant Identifiers: chr13:g.101182538_101182539insATT (hg19) ; chr13:g.100530284_100530285insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530285_100530287dup , CM000675.2:g.100530285_100530287dup	GRCh38
NC_000013.10:g.101182539_101182541dup , CM000675.1:g.101182539_101182541dup	GRCh37
NC_000013.9:g.99980540_99980542dup	NCBI36
NG_008768.1:g.446203_446205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1843_*1845dup (GGACT) MANE Select	ENSP00000508020.1:n.*1843_*1845dup
ENST00000376285.6:c.*119_*121dup (PCCA) MANE Select	ENSP00000365462.1:n.*119_*121dup
ENST00000636366.1:c.1504_1506dup (PCCA)
ENST00000636475.1:c.1821_1823dup (PCCA)
ENST00000637657.1:c.1966_1968dup (PCCA)
ENST00000647303.1:c.*1790_*1792dup (PCCA)	ENSP00000495663.1:n.*1790_*1792dup
ENST00000376250.6:c.*1843_*1845dup (GGACT)	ENSP00000365426.1:n.*1843_*1845dup
ENST00000376279.7:c.*119_*121dup (PCCA)	ENSP00000365456.3:n.*119_*121dup
ENST00000376285.5:c.*119_*121dup (PCCA)	ENSP00000365462.1:n.*119_*121dup
ENST00000376286.8:c.*119_*121dup (PCCA)	ENSP00000365463.4:n.*119_*121dup
ENST00000428969.1:c.455_457dup (PCCA)	ENSP00000399413.1:n.455_457dup
ENST00000455100.2:c.*1843_*1845dup (GGACT)	ENSP00000410449.1:n.*1843_*1845dup
ENST00000458283.5:c.522_524dup (PCCA)
NM_000282.3:c.*119_*121dup (PCCA)	NP_000273.2:n.*119_*121dup
NM_001127692.2:c.*119_*121dup (PCCA)	NP_001121164.1:n.*119_*121dup
NM_001178004.1:c.*119_*121dup (PCCA)	NP_001171475.1:n.*119_*121dup
NM_001195087.1:c.*1843_*1845dup (GGACT)	NP_001182016.1:n.*1843_*1845dup
NM_033110.2:c.*1843_*1845dup (GGACT)	NP_149101.1:n.*1843_*1845dup
XR_931615.1:n.2163_2165dup (PCCA)
NM_001352605.1:c.*119_*121dup (PCCA)	NP_001339534.1:n.*119_*121dup
NM_001352606.1:c.*119_*121dup (PCCA)	NP_001339535.1:n.*119_*121dup
NM_001352607.1:c.*119_*121dup (PCCA)	NP_001339536.1:n.*119_*121dup
NM_001352608.1:c.*119_*121dup (PCCA)	NP_001339537.1:n.*119_*121dup
NM_001352610.1:c.*119_*121dup (PCCA)	NP_001339539.1:n.*119_*121dup
NM_001352611.1:c.*119_*121dup (PCCA)	NP_001339540.1:n.*119_*121dup
NM_001352612.1:c.*119_*121dup (PCCA)	NP_001339541.1:n.*119_*121dup
NR_148027.1:n.2355_2357dup (PCCA)
NR_148028.1:n.2393_2395dup (PCCA)
NR_148029.1:n.2315_2317dup (PCCA)
NR_148030.1:n.2496_2498dup (PCCA)
NR_148031.1:n.2309_2311dup (PCCA)
XM_005254083.2:c.*1843_*1845dup (GGACT)	XP_005254140.1:n.*1843_*1845dup
XM_011521129.3:c.*1843_*1845dup (GGACT)	XP_011519431.1:n.*1843_*1845dup
XM_017020609.1:c.*119_*121dup (PCCA)	XP_016876098.1:n.*119_*121dup
XM_017020613.1:c.*234_*236dup (PCCA)	XP_016876102.1:n.*234_*236dup
XR_001749567.1:n.2486_2488dup (PCCA)
XR_001749568.1:n.2573_2575dup (PCCA)
XR_001749569.1:n.2432_2434dup (PCCA)
XR_001749576.1:n.2043_2045dup (PCCA)
XR_001749577.1:n.1940_1942dup (PCCA)
NM_000282.4:c.*119_*121dup (PCCA) MANE Select	NP_000273.2:n.*119_*121dup
NM_001352605.2:c.*119_*121dup (PCCA)	NP_001339534.1:n.*119_*121dup
NM_001352606.2:c.*119_*121dup (PCCA)	NP_001339535.1:n.*119_*121dup
NM_001352607.2:c.*119_*121dup (PCCA)	NP_001339536.1:n.*119_*121dup
NM_001352608.2:c.*119_*121dup (PCCA)	NP_001339537.1:n.*119_*121dup
NM_001352610.2:c.*119_*121dup (PCCA)	NP_001339539.1:n.*119_*121dup
NM_001352611.2:c.*119_*121dup (PCCA)	NP_001339540.1:n.*119_*121dup
NM_001352612.2:c.*119_*121dup (PCCA)	NP_001339541.1:n.*119_*121dup
NR_148027.2:n.2277_2279dup (PCCA)
NR_148028.2:n.2315_2317dup (PCCA)
NR_148029.2:n.2237_2239dup (PCCA)
NR_148030.2:n.2418_2420dup (PCCA)
NR_148031.2:n.2231_2233dup (PCCA)
NM_001127692.3:c.*119_*121dup (PCCA)	NP_001121164.1:n.*119_*121dup
NM_001178004.2:c.*119_*121dup (PCCA)	NP_001171475.1:n.*119_*121dup
NM_001195087.2:c.*1843_*1845dup (GGACT) MANE Select	NP_001182016.1:n.*1843_*1845dup
NM_033110.3:c.*1843_*1845dup (GGACT)	NP_149101.1:n.*1843_*1845dup